AutismKB 2.0

Evidence Details for ZNF648


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Basic Information Top
Gene Symbol:ZNF648 ( - )
Gene Full Name: zinc finger protein 648
Band: 1q25.3
Quick LinksEntrez ID:127665; OMIM: NA; Uniprot ID:ZN648_HUMAN; ENSEMBL ID: ENSG00000179930; HGNC ID: 18190
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF648|127665|nucleotide
ATGGCACAAGTGGACTCCCAGGACAGGTGGGGAGAGGCGTCTCCTCTCAGCAGCTTGACTGAGGAAGCTCATGACACCCAGATGCTGAGCATGAACTTAGAGAGT
GACGATGAAGATGGTGGGGAGGCCGAAAAAGAGGGCACCGCTGACCCGGTGGCCTGTCCAAGGGGCAGCTCCCCAGTAACACACGAAAATCCTGACTTGCCATGG
CCCCATCCACTGGGCAAAGAGGAAGAGAAATTCTCTGACTCCTCCAGTGCTGGGGGCATGGGGCAGAAACCAGTGGAAATGTCTGGGAAAGCCAGTTGGAGCAGA
GATGTGACAAAGATCAACGAGACCCAGGGTTCCCCGGGAGCAAGCAGAGCTCTGGGTTCCCTTCCCAGTGGTCTCGCACACAAATTGTTAGGTCAGATGCAACCT
CTTGGGGACCGACTACCTGCGGGTGATGATGGATACTCGGGGGCAAACCAGGACGCAGTCTTGGATGTCCCACCCAGCTTCCCCAGCAATGGAAAGTATCTCTGT
GCGCACAAAAGTGTAGACACGTCCGCAGGGAACTCTTCTCTGTTGTGTTTCCCCAGGCCGGGGAGCAACTGGGACCTTCCCACGCAAGAGACACATACACCAGCC
CAGGCGTCGGCCACCCCAGCCAGCCTGGCTGCCGCGGTCCTGGCAAAAGCGCGGAACAGCAGGAAAGTACAGAACCAGGCGGGCCGGCGCGAGGGCGGAGAGGCT
GAGGCGCGTCCCTACAGGTGCCTGCGGGGCGGGCGGGCCTTTCAGAAGCCCAGCAAGCCGCTGAGCCCCGCGGAGACGCGCGGCGGCGCCGCCAAGCGCTACGCG
TGCGAGCTATGCGGGAAGGCCTACTCCCACCGCGGCACACTCCAGCAGCACAGGCGCCTGCACACGGGCGAGCGGCCCTACCAGTGCTCCTTCTGCGACAAGGCC
TACACCTGGTCCTCCGACCACCGGAAGCACATCCGCACCCACACAGGCGAGAAACCCTACCCGTGTCCAGACTGCGGGAAGGCCTTCGTGCGCTCTTCGGACCTG
CGCAAACACCAGCGCAACATGCACAGCAACAATAAGCCCTTCCCGTGCTCCGAGTGCGGCCTGACCTTCAACAAGCCGCTGTCGCTGCTGCGCCACCAGCGCACG
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>ZNF648|127665|protein
MAQVDSQDRWGEASPLSSLTEEAHDTQMLSMNLESDDEDGGEAEKEGTADPVACPRGSSPVTHENPDLPWPHPLGKEEEKFSDSSSAGGMGQKPVEMSGKASWSR
DVTKINETQGSPGASRALGSLPSGLAHKLLGQMQPLGDRLPAGDDGYSGANQDAVLDVPPSFPSNGKYLCAHKSVDTSAGNSSLLCFPRPGSNWDLPTQETHTPA
QASATPASLAAAVLAKARNSRKVQNQAGRREGGEAEARPYRCLRGGRAFQKPSKPLSPAETRGGAAKRYACELCGKAYSHRGTLQQHRRLHTGERPYQCSFCDKA
YTWSSDHRKHIRTHTGEKPYPCPDCGKAFVRSSDLRKHQRNMHSNNKPFPCSECGLTFNKPLSLLRHQRTHLGAKPFRCPACDREFAVASRMVEHQRVHSGERPF
PCPTCGKCFTKSSNLSEHQTLHTGQRPFKCADCGVAFAQPSRLVRHQRIHTGERPFPCTQCGQAFARSSTLKRHQQIHSGEKGFLCAECGRAFRIASELAQHIRM
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018